ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
0 1 3 0 4 1 9

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic uncertain significance benign not provided total
GARS1 1 3 4 1 9

Submitter and significance breakdown #

Total submitters: 5
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Submitter likely pathogenic uncertain significance benign not provided total
Athena Diagnostics Inc 0 0 4 0 4
Fulgent Genetics,Fulgent Genetics 0 2 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 1 1

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